Detection of two rare β -thalassemia mutations [-90 (C → T) and CD 26 (C → T)] among Indians.
Indian J Hum Genet
;
2005 May; 11(2): 76-79
Artículo
en Inglés
| IMSEAR
| ID: sea-143333
ABSTRACT
BACKGROUND:
β -Thalassemia (β -thal) is present in practically every caste group in Indians. Molecular characterization of β -thal in these groups has revealed an extremely heterogeneous picture.AIM:
To identify all the mutations and to detect the novel mutations using a versatile mutation detection technique. MATERIALS ANDMETHODS:
Denaturing gradient gel electrophoresis (DGGE) has been established to scan the entire β -globin gene to localize the mutation followed by DNA sequencing for characterization. The DNA samples from two families referred to us either for prenatal diagnosis or for DNA studies were studied.RESULTS:
Atypical DGGE patterns in fragments B & A indicating the presence of the mutation, have been detected in both the families. DNA sequencing revealed two rare patterns fragments with patterns in fragments β -thal mutations [CD 26 (C→T) and -90 (C→T)].CONCLUSION:
DGGE is a useful mutation detection technique to identify β -thal mutations among the heterogeneous Indian population.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2005
Tipo del documento:
Artículo
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